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Article

Andersen-Tawil syndrome: report of 3 novel mutations and high risk of symptomatic cardiac involvement.

Muscle & nerve - 1 Feb 2015

Kostera-Pruszczyk Anna, Potulska-Chromik Anna, Pruszczyk Piotr, Bieganowska Katarzyna, Miszczak-Knecht Maria, Bienias Piotr, Szczałuba Krzysztof, Lee Hsien-Yang, Quinn Emily, Ploski Rafal, Kaminska Anna, Ptáček Louis J

Abstract excerpt

INTRODUCTION: Andersen-Tawil syndrome (ATS) is a potassium channelopathy affecting cardiac and skeletal muscle. Periodic paralysis is a presenting symptom in some patients, whereas, in others, symptomatic arrhythmias or prolongation of QT in echocardiographic recordings will lead to diagnosis of ATS. Striking intrafamilial variability of expression of KCNJ2 mutations and rarity of the syndrome may lead to...

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Source

Identifiers

PMID: 24861851
DOI: 10.1002/mus.24293

Genes

KCNJ2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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